Forms and Documents
- For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions; suspicion of chromosomal mosaicism based upon prior karyotype or chromosomal microarray result.
- Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.
- Rule out mosaicism.
- Karyotype with 30 additional metaphases counted (50 total)